FAM83F[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 2653166	NM_138435.4(FAM83F):c.54G>A (p.Val18=)	FAM83F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496321	NM_138435.4(FAM83F):c.71C>T (p.Ala24Val)	FAM83F (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226419	NM_138435.4(FAM83F):c.85G>A (p.Glu29Lys)	FAM83F (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521844	NM_138435.4(FAM83F):c.118G>C (p.Gly40Arg)	FAM83F (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092605	NM_138435.4(FAM83F):c.122G>A (p.Gly41Asp)	FAM83F (G41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092609	NM_138435.4(FAM83F):c.223G>A (p.Glu75Lys)	FAM83F (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092610	NM_138435.4(FAM83F):c.373G>A (p.Asp125Asn)	FAM83F (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329775	NM_138435.4(FAM83F):c.401G>A (p.Arg134Gln)	FAM83F (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285439	NM_138435.4(FAM83F):c.422C>T (p.Pro141Leu)	FAM83F (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389301	NM_138435.4(FAM83F):c.448C>T (p.Leu150Phe)	FAM83F (L150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399157	NM_138435.4(FAM83F):c.457G>C (p.Val153Leu)	FAM83F (V153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405705	NM_138435.4(FAM83F):c.490G>T (p.Val164Phe)	FAM83F (V164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345399	NM_138435.4(FAM83F):c.511C>G (p.Leu171Val)	FAM83F (L171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327543	NM_138435.4(FAM83F):c.529A>G (p.Ile177Val)	FAM83F (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092611	NM_138435.4(FAM83F):c.544G>A (p.Val182Met)	FAM83F (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522782	NM_138435.4(FAM83F):c.553G>A (p.Ala185Thr)	FAM83F (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357497	NM_138435.4(FAM83F):c.565C>T (p.Arg189Trp)	FAM83F (R189W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377904	NM_138435.4(FAM83F):c.649C>T (p.Arg217Trp)	FAM83F (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508422	NM_138435.4(FAM83F):c.650G>A (p.Arg217Gln)	FAM83F (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204812	NM_138435.4(FAM83F):c.665G>A (p.Arg222His)	FAM83F (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391262	NM_138435.4(FAM83F):c.671G>A (p.Arg224His)	FAM83F (R224H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2216646	NM_138435.4(FAM83F):c.751G>A (p.Gly251Ser)	FAM83F (G251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092613	NM_138435.4(FAM83F):c.794C>G (p.Ser265Cys)	FAM83F (S265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312157	NM_138435.4(FAM83F):c.812A>T (p.Asn271Ile)	FAM83F (N271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215320	NM_138435.4(FAM83F):c.848C>G (p.Pro283Arg)	FAM83F (P283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568925	NM_138435.4(FAM83F):c.857C>T (p.Thr286Met)	FAM83F (T286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353266	NM_138435.4(FAM83F):c.877G>A (p.Ala293Thr)	FAM83F (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318512	NM_138435.4(FAM83F):c.895G>A (p.Asp299Asn)	FAM83F (D299N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394223	NM_138435.4(FAM83F):c.904C>T (p.Arg302Trp)	FAM83F (R302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554432	NM_138435.4(FAM83F):c.909G>C (p.Gln303His)	FAM83F (Q303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324306	NM_138435.4(FAM83F):c.911T>G (p.Leu304Arg)	FAM83F (L304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092614	NM_138435.4(FAM83F):c.932G>A (p.Gly311Asp)	FAM83F (G311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092615	NM_138435.4(FAM83F):c.988G>A (p.Val330Met)	FAM83F (V330M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092599	NM_138435.4(FAM83F):c.1052C>T (p.Ala351Val)	FAM83F (A351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471880	NM_138435.4(FAM83F):c.1085C>T (p.Ala362Val)	FAM83F (A362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092601	NM_138435.4(FAM83F):c.1094G>A (p.Gly365Asp)	FAM83F (G365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092602	NM_138435.4(FAM83F):c.1109G>A (p.Arg370His)	FAM83F (R370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092603	NM_138435.4(FAM83F):c.1159C>T (p.Pro387Ser)	FAM83F (P387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092604	NM_138435.4(FAM83F):c.1221G>C (p.Met407Ile)	FAM83F (M407I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376699	NM_138435.4(FAM83F):c.1271T>C (p.Met424Thr)	FAM83F (M424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352017	NM_138435.4(FAM83F):c.1283C>T (p.Ala428Val)	FAM83F (A428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342997	NM_138435.4(FAM83F):c.1285C>T (p.Arg429Trp)	FAM83F (R429W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360716	NM_138435.4(FAM83F):c.1303G>A (p.Ala435Thr)	FAM83F (A435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213577	NM_138435.4(FAM83F):c.1310G>A (p.Arg437His)	FAM83F (R437H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092606	NM_138435.4(FAM83F):c.1339G>T (p.Ala447Ser)	FAM83F (A447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343112	NM_138435.4(FAM83F):c.1361A>G (p.Asn454Ser)	FAM83F (N454S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092607	NM_138435.4(FAM83F):c.1390A>G (p.Thr464Ala)	FAM83F (T464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092608	NM_138435.4(FAM83F):c.1428C>A (p.Asn476Lys)	FAM83F (N476K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	GPathogenic
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 68